Agenesis of Corpus Callosum: Clinical Description and Etiology

Author:

Marszal Elzbieta1,Jamroz Ewa2,Pilch Jacek2,Kluczewska Ewa3,Jablecka-Deja Halina2,Krawczyk Robert2

Affiliation:

1. Pediatric Neurology Clinic, Silesian School of Medicine, Katowice, Poland,

2. Pediatric Neurology Clinic, Silesian School of Medicine, Katowice, Poland

3. Department of Radiology Silesian School of Medicine, Katowice, Poland

Abstract

In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been established in four children: partial trisomy of chromosome 13, partial duplication of the long arm of chromosome 10, Aicardi's syndrome, and intracranial bleeding during the fetal period as a result of injury. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformation in one other patient, which suggests a genetic etiology. In spite of these variable etiologies, dysmorphic features were identified in all seven patients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination. ( J Child Neurol 2000;15:401-405).

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference28 articles.

1. Aicardi J.: Malformations of the CNS, in Aicardi J (ed): Diseases of the Nervous System in Childhood. London, Mac Keith Press, 1992, pp 108-202.

2. Agenesis of the corpus callosum: a United Kingdom series of 56 cases

3. Volpe JJ: Neural tube formation and prosencephalic development, in Volpe JJ (ed): Neurology of the Newborn, 3rd ed. London, WB Saunders , 1995, pp 3-42.

4. Warkany J., Lemire RJ, Cohen Jr MM: Mental Retardation and Congenital Malformations of the Central Nervous System. London, Year Book Medical Publishers, 1981, pp 224-244.

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